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<p>Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the <i>BSCL2</i> gene. Here we report a novel variant (NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)) in an 18-year-old female with congenital generalized lipodystrophy type 2. The patient presented with severe lipoatrophy, muscular hypertrophy and insulin resistance. This frameshift variant introduces a premature stop codon, probably triggering nonsense-mediated decay. This finding expands the <i>BSCL2</i> mutational spectrum and highlights the importance of genetic analysis in consanguineous populations.</p>

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Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月4日

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  • Hadi Bazmi,
  • Neda Jabbarpour,
  • Asma Alizadeh Asghari,
  • Morteza Bonaydi,
  • Akram Motamedi,
  • Mohammad Barzegar

摘要

Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the BSCL2 gene. Here we report a novel variant (NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)) in an 18-year-old female with congenital generalized lipodystrophy type 2. The patient presented with severe lipoatrophy, muscular hypertrophy and insulin resistance. This frameshift variant introduces a premature stop codon, probably triggering nonsense-mediated decay. This finding expands the BSCL2 mutational spectrum and highlights the importance of genetic analysis in consanguineous populations.